Reviewed, UniProtKB/Swiss-Prot O14493 (CLD4_HUMAN)

Names and origin

Protein names

Recommended name:
    Claudin-4
Alternative name(s):
    Clostridium perfringens enterotoxin receptor
      Short name=CPE-receptor
      Short name=CPE-R
    Williams-Beuren syndrome chromosomal region 8 protein

Gene names

Name:	CLDN4
Synonyms:	CPER, CPETR1, WBSCR8

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	209 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Plays a major role in tight junction-specific obliteration of the intercellular space By similarity.
Subunit structure	Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3 By similarity.
Subcellular location	Cell junction › tight junction By similarity. Cell membrane; Multi-pass membrane protein By similarity.
Involvement in disease	Haploinsufficiency of CLDN4 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in Williams-Beuren syndrome (WBS), a rare developmental disorder. It is a contiguous gene deletion syndrome involving genes from chromosome band 7q11.23.
Sequence similarities	Belongs to the claudin family.

Ontologies

Keywords
Cellular component	Cell junction Cell membrane Membrane Tight junction
Disease	Williams-Beuren syndrome
Domain	Transmembrane
Gene Ontology (GO)
Biological process	calcium-independent cell-cell adhesion Inferred from sequence or structural similarity. Source: UniProtKB pathogenesis Ref.1 Traceable author statement. Source: ProtInc
Cellular component	integral to plasma membrane Ref.1 Traceable author statement. Source: ProtInc tight junction Inferred from sequence or structural similarity. Source: UniProtKB
Molecular function	identical protein binding Inferred from sequence or structural similarity. Source: UniProtKB structural molecule activity Inferred from electronic annotation. Source: InterPro transmembrane receptor activity Ref.1 Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 209	209	Claudin-4		PRO_0000144743
Regions
	Topological domain	1 – 7	7	Cytoplasmic Potential
	Transmembrane	8 – 28	21	Potential
	Topological domain	29 – 81	53	Extracellular Potential
	Transmembrane	82 – 102	21	Potential
	Topological domain	103 – 117	15	Cytoplasmic Potential
	Transmembrane	118 – 138	21	Potential
	Topological domain	139 – 160	22	Extracellular Potential
	Transmembrane	161 – 181	21	Potential
	Topological domain	182 – 209	28	Cytoplasmic Potential
	Region	208 – 209	2	Interactions with TJP1, TJP2 and TJP3 By similarity

Sequences

	Sequence		Length	Mass (Da)
	O14493-1 [UniParc]. Last modified January 1, 1998. Version 1. Checksum: 0659A93AA5F0E4C5	FASTA	209	22,077
	10 20 30 40 50 60 MASMGLQVMG IALAVLGWLA VMLCCALPMW RVTAFIGSNI VTSQTIWEGL WMNCVVQSTG 70 80 90 100 110 120 QMQCKVYDSL LALPQDLQAA RALVIISIIV AALGVLLSVV GGKCTNCLED ESAKAKTMIV 130 140 150 160 170 180 AGVVFLLAGL MVIVPVSWTA HNIIQDFYNP LVASGQKREM GASLYVGWAA SGLLLLGGGL 190 200 LCCNCPPRTD KPYSAKYSAA RSAAASNYV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Clostridium perfringens enterotoxin utilizes two structurally related membrane proteins as functional receptors in vivo." Katahira J., Sugiyama H., Inoue N., Horiguchi Y., Matsuda M., Sugimoto N. J. Biol. Chem. 272:26652-26658(1997) [PubMed: 9334247] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Fetal brain.
[2]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Colon.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBLGenBankDDBJ	AB000712 mRNA. Translation: BAA22984.1. BT006989 mRNA. Translation: AAP35635.1. BC000671 mRNA. Translation: AAH00671.1.
IPI	IPI00021944.
RefSeq	NP_001296.1.
UniGene	Hs.647036 Hs.699253 Hs.710735
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	O14493.
Proteomic databases
PRIDE	O14493.
Genome annotation databases
Ensembl	ENSG00000189143. Homo sapiens. [Contig view]
GeneID	1364.
KEGG	hsa:1364.
Organism-specific databases
GeneCards	GC07P072880.
H-InvDB	HIX0006758.
HGNC	HGNC:2046. CLDN4.
HPA	CAB002610.
MIM	602909. gene.
PharmGKB	PA26572.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	O14493.
HOVERGEN	O14493.
OMA	O14493. MVPVSWT.
Gene expression databases
ArrayExpress	O14493.
Bgee	O14493.
CleanEx	HS_CLDN4.
GermOnline	ENSG00000189143. Homo sapiens.
Family and domain databases
InterPro	IPR006187. Claudin. IPR003550. Claudin4. IPR017974. Claudin_CS. IPR004031. PMP22/EMP/MP20/Claudin. [Graphical view]
PANTHER	PTHR12002. Claudin. 1 hit. PTHR12002:SF52. Claudin4. 1 hit.
Pfam	PF00822. PMP22_Claudin. 1 hit. [Graphical view]
PRINTS	PR01077. CLAUDIN. PR01379. CLAUDIN4.
PROSITE	PS01346. CLAUDIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	5527.
SOURCE	Search...

Entry information

Entry name

CLD4_HUMAN

Accession

Primary (citable) accession number: O14493

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	January 1, 1998
Last modified:	June 16, 2009
This is version 79 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)